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C57BL/6NCya-Zcwpw1em1/Cya
Common Name:
Zcwpw1-KO
Product ID:
S-KO-09795
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Zcwpw1-KO
Strain ID
KOCMP-381678-Zcwpw1-B6N-VA
Gene Name
Zcwpw1
Product ID
S-KO-09795
Gene Alias
Gm1053
Background
C57BL/6NCya
NCBI ID
381678
Modification
Conventional knockout
Chromosome
5
Phenotype
MGI:2685899
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Zcwpw1em1/Cya mice (Catalog S-KO-09795) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000035852
NCBI RefSeq
NM_001005426
Target Region
Exon 3~5
Size of Effective Region
~3.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Zcwpw1, lacking common aliases as per the references, is a gene with crucial functions in meiosis. It contains H3K4me3 and H3K36me3 recognition domains and is recruited to recombination hotspots by PRDM9, playing a vital role in meiotic double-strand break repair. This process is essential for homologous chromosome pairing, genetic diversity, and the formation of haploid germ cells [2,3,4,5,7].

Male Zcwpw1 knockout mice show severe DSB repair and synapsis defects, with persistent DMC1 foci, leading to downstream sterility. Spermatocytes in these mice are arrested at the pachytene-like stage, phenocopying Zcwpw1-knockout mice. This indicates Zcwpw1 is indispensable for meiosis synapsis in males [2,3,4]. In contrast, in female mice, deletion of Zcwpw1 only slows down meiosis prophase I progression, and Zcwpw1 -/- female mice have normal fertility until mid-adulthood [4]. A loss-of-function variant in ZCWPW1 in humans has also been associated with male infertility, presenting with sperm head defects and high DNA fragmentation [8]. Additionally, Zcwpw1 has been linked to Alzheimer's disease as a potential risk gene, with rare-variant burden highlighting its possible role in the disease [1,6,9].

In summary, Zcwpw1 is essential for meiotic double-strand break repair and synapsis in male meiosis, playing a key role in male fertility. The gene knockout mouse models have clearly demonstrated its function in male reproductive processes. The association with Alzheimer's disease also indicates its potential importance in neurodegenerative disease research, although further exploration is needed to fully understand its role in this context.

References:

1. Karch, Celeste M, Goate, Alison M. 2014. Alzheimer's disease risk genes and mechanisms of disease pathogenesis. In Biological psychiatry, 77, 43-51. doi:10.1016/j.biopsych.2014.05.006. https://pubmed.ncbi.nlm.nih.gov/24951455/

2. Wells, Daniel, Bitoun, Emmanuelle, Moralli, Daniela, Green, Catherine, Myers, Simon R. 2020. ZCWPW1 is recruited to recombination hotspots by PRDM9 and is essential for meiotic double strand break repair. In eLife, 9, . doi:10.7554/eLife.53392. https://pubmed.ncbi.nlm.nih.gov/32744506/

3. Huang, Tao, Yuan, Shenli, Gao, Lei, Chen, Zi-Jiang, Liu, Hongbin. 2020. The histone modification reader ZCWPW1 links histone methylation to PRDM9-induced double-strand break repair. In eLife, 9, . doi:10.7554/eLife.53459. https://pubmed.ncbi.nlm.nih.gov/32374261/

4. Li, Miao, Huang, Tao, Li, Meng-Jing, Liu, Hong-Bin, Liu, Kui. 2019. The histone modification reader ZCWPW1 is required for meiosis prophase I in male but not in female mice. In Science advances, 5, eaax1101. doi:10.1126/sciadv.aax1101. https://pubmed.ncbi.nlm.nih.gov/31453335/

5. Yuan, Shenli, Huang, Tao, Bao, Ziyou, Liu, Hongbin, Chen, Zi-Jiang. 2022. The histone modification reader ZCWPW1 promotes double-strand break repair by regulating cross-talk of histone modifications and chromatin accessibility at meiotic hotspots. In Genome biology, 23, 187. doi:10.1186/s13059-022-02758-z. https://pubmed.ncbi.nlm.nih.gov/36068616/

6. Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Bellenguez, Céline, Lambert, Jean-Charles. 2022. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. In Nature genetics, 54, 1786-1794. doi:10.1038/s41588-022-01208-7. https://pubmed.ncbi.nlm.nih.gov/36411364/

7. Mahgoub, Mohamed, Paiano, Jacob, Bruno, Melania, Nussenzweig, André, Macfarlan, Todd S. 2020. Dual histone methyl reader ZCWPW1 facilitates repair of meiotic double strand breaks in male mice. In eLife, 9, . doi:10.7554/eLife.53360. https://pubmed.ncbi.nlm.nih.gov/32352380/

8. Song, Yuelin, Guo, Juncen, Zhou, Yanling, Zhang, Guohui, Wang, Hongjing. 2024. A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation. In Reproductive health, 21, 18. doi:10.1186/s12978-024-01746-9. https://pubmed.ncbi.nlm.nih.gov/38310235/

9. Kim, Jong Hun. 2019. Genetics of Alzheimer's Disease. In Dementia and neurocognitive disorders, 17, 131-136. doi:10.12779/dnd.2018.17.4.131. https://pubmed.ncbi.nlm.nih.gov/30906402/

Quality Control Standard
Sperm Test

Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.

Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.

Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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